Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
Perching Syndrome |
|
Cyanosis, High palate, Respiratory distress, Dysphagia, Feeding difficulties |
OMIM:617055 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Death in infancy, Protracted diarrhea, Malnutrition, Abnormal intestine morpholo... |
OMIM:251850 |
Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Aspiration pneumonia, Gastrostomy tube feeding in infancy, R... |
ORPHA:141152 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Tremor,... |
OMIM:601068 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
2q33.1 deletion syndrome |
|
Inguinal hernia, Cleft palate, High palate |
DECIPHER:51 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Trehalase Deficiency |
|
Vomiting, Diarrhea, Malabsorption, Abdominal pain, Abdominal distention, Abnormal circulating enz... |
ORPHA:103909 |
Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Abnormal respiratory system physiolo... |
ORPHA:70589 |
Asbestos Intoxication |
|
Cyanosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Diffuse reticular ... |
ORPHA:2302 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Choking episodes, Respiratory distress, Recurrent pneumonia, Abnormal ... |
ORPHA:60032 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
Acute Interstitial Pneumonia |
|
Cyanosis, Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural ho... |
ORPHA:79126 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... |
OMIM:610921 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Gingival recession, Periodontitis, Gingival fragility, Inguinal hernia, Colon cancer, Gingival bl... |
OMIM:617174 |
Chronic Hiccup |
|
Abnormal eating behavior, Malnutrition, Dehydration |
ORPHA:396 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal d... |
ORPHA:103907 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Inguinal hernia, Umbilical hernia, Accessory oral frenulum |
ORPHA:1373 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... |
OMIM:267450 |
Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Poor suck, Agenesis of lateral incisor, ... |
ORPHA:199306 |
Pierre Robin Syndrome |
|
Pierre-Robin sequence, Feeding difficulties in infancy, Upper airway obstruction, Neonatal respir... |
OMIM:261800 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Laryngotracheal Angioma |
|
Cyanosis, Vomiting, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Feeding... |
ORPHA:137935 |
Congenital Pancreatic Cyst |
|
Vomiting, Abdominal pain, Jaundice, Abdominal distention, Anorexia |
ORPHA:313906 |
Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... |
OMIM:615294 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Omphalocele, Bifid uvula |
OMIM:258320 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1074 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Neonatal deat... |
OMIM:265120 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... |
OMIM:615872 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Feeding difficulties, Cyanotic episode, Death in infancy |
OMIM:610992 |
Intestinal Dysmotility Syndrome |
|
Decreased intestinal transit time, High palate, Diarrhea, Projectile vomiting, Abdominal distenti... |
OMIM:620045 |
Hyperekplexia 4 |
|
Distal arthrogryposis, Flexion contracture, High palate, Camptodactyly, Inguinal hernia, Umbilica... |
OMIM:618011 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate |
OMIM:119300 |
Chronic Pneumonitis Of Infancy |
|
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... |
ORPHA:91359 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... |
ORPHA:70587 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal colic, Vomiting, Diarrhea, Abdominal distention |
ORPHA:35122 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Aspiration, Impaired oropharyngeal swallow response, Choking episodes, Cough, Dyspnea, ... |
ORPHA:2004 |
Diarrhea 4, Malabsorptive, Congenital |
|
Vomiting, Diarrhea, Dehydration |
OMIM:610370 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
High palate, Macroglossia, Inguinal hernia, Tented upper lip vermilion, Umbilical hernia |
OMIM:616025 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... |
OMIM:616726 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Pulmonary infiltrates, Parenchymal consolidation, Elevated bronchoalveolar lavage fluid neutrophi... |
OMIM:610978 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Parenchymal consolidation, Abnormal pulmonary thoracic imaging finding, Asthma, Hypoxemia, Pleura... |
ORPHA:2902 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Bifid uvula, Cleft palate, Omphalocele, Unilateral cleft lip |
ORPHA:2736 |
Primary Effusion Lymphoma |
|
Pleural effusion, Abdominal pain, Dyspnea, Abdominal distention |
ORPHA:48686 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recurrent upper res... |
OMIM:263000 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Diastasis recti, Gingival bleeding, Umbilical hernia |
OMIM:606893 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Anorexia, Restrictive ventilat... |
ORPHA:1302 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom... |
OMIM:615237 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... |
ORPHA:922 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Abnormal pulmonary thoracic ... |
ORPHA:70588 |
Diarrhea 12, With Microvillus Atrophy |
|
Respiratory tract infection, Vomiting, Dependency on parenteral nutrition, Bronchiectasis, Villou... |
OMIM:619445 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatic failure, Death in infancy, Jaundice, Elevated hepatic transaminase, Abdominal distention,... |
OMIM:618528 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Alpha-Methylacetoacetic Aciduria |
|
Vomiting, Dehydration |
OMIM:203750 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Cyanosis, Bronchiectasis, Desquamative interstitial pneumonitis, Decre... |
OMIM:610913 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Pulmonary cyst, Abnormal pulmonary thoracic imaging finding, Abdomina... |
ORPHA:2357 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Elevated circulating alkaline phosphatase concentration, Dyspnea, Abdominal distention |
OMIM:174050 |
Apnea, Central Sleep |
|
Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration |
OMIM:207720 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Respiratory distress, Respiratory failure, Recurrent viral uppe... |
OMIM:619773 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615067 |
Cleft Palate, Isolated |
|
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... |
ORPHA:3348 |
Combined Malonic And Methylmalonic Aciduria |
|
Vomiting, Diarrhea, Dehydration |
OMIM:614265 |
Cleft Velum |
|
Poor suck, Cleft soft palate, Velopharyngeal insufficiency, Hypoplasia of the maxilla, Nasal regu... |
ORPHA:99772 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Cleft palate, Narrow mouth, Acrocyanosis |
ORPHA:2901 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Cleft palate, Ankyloglossia, Bifid uvula |
OMIM:303400 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Gastroesophageal reflux, Elevated circulating alanine aminotransferase concentration, Poor suck, ... |
OMIM:616974 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Cleft Palate-Lateral Synechia Syndrome |
|
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth |
ORPHA:2016 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Umbilical hernia, Downturned corners of mouth, High, narrow palate, Wide mouth |
OMIM:273390 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention |
OMIM:616868 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Diarrhea, Abdominal distention, Edema, Dehydration, Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth |
OMIM:216300 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Exertional dyspnea, Pulmonary fibrosis, Dysphagia, Increased circulating lactate dehydrogenase co... |
ORPHA:254361 |
Pleural Mesothelioma |
|
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... |
ORPHA:50251 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Muscular Hypertonia, Lethal |
|
Umbilical hernia |
OMIM:254120 |
Developmental And Epileptic Encephalopathy 30 |
|
Feeding difficulties, Respiratory distress, Death in infancy |
OMIM:616341 |
Isolated Polycystic Liver Disease |
|
Respiratory insufficiency, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal pa... |
ORPHA:2924 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Mandibular condyle hypoplasia, Dental crowding, Respiratory distress, Apnea,... |
OMIM:614669 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Atelectasis |
OMIM:300455 |
Colonic Atresia |
|
Colonic atresia, Abdominal distention |
OMIM:303650 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Familial Cold Urticaria |
|
Nausea and vomiting, Abdominal pain, Erythema, Dehydration, Polydipsia, Urticaria |
ORPHA:47045 |
Thyroid Hemiagenesis |
|
Jaundice, Constipation, Abdominal distention, Macroglossia |
ORPHA:95719 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, L... |
OMIM:610910 |
Myotubular Myopathy With Abnormal Genital Development |
|
High palate, Death in infancy, Respiratory distress, Feeding difficulties, Neonatal death, Atelec... |
OMIM:300219 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Poor suck, Feeding difficulties in infancy, Respiratory distress, Apneic episodes precipitated by... |
OMIM:605809 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Nasal regurgitation, Dysphagia |
OMIM:617732 |
Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft lip, Submucous cleft of soft and hard palate, Median cleft lip and palate, Medi... |
ORPHA:1991 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Poor suck, Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dyspha... |
OMIM:254210 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Gastroesophageal reflux, High palate, Tongue fasciculations, Respirato... |
OMIM:614399 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... |
ORPHA:1303 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
X-Linked Ehlers-Danlos Syndrome |
|
Inguinal hernia, Hernia, Umbilical hernia |
ORPHA:75497 |
Adiposis Dolorosa |
|
Painful subcutaneous lipomas, Constipation, Abdominal distention |
OMIM:103200 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Dysphagi... |
OMIM:619751 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Decreased liver function, Neonatal death, Vomiting, Dehydration |
OMIM:602199 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia |
ORPHA:1918 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hypertonic dehydration, Hyperactive bowel sounds, Chronic di... |
OMIM:606824 |
Secondary Short Bowel Syndrome |
|
Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Small intestinal dysmotility, Malabsorption, ... |
ORPHA:95427 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Choanal Atresia |
|
Cyanosis, Abnormal nasal mucus secretion, Choking episodes, Respiratory distress, Chronic sinusit... |
ORPHA:137914 |
Enteric Anendocrinosis |
|
Malabsorption, Vomiting, Diarrhea, Dehydration |
ORPHA:83620 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Cleft palate, Bifid uvula, Submucous cleft hard palate |
ORPHA:2521 |
Central Diabetes Insipidus |
|
Diarrhea, Nausea and vomiting, Anorexia, Dehydration, Polydipsia |
ORPHA:178029 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Diffuse reticular or finely nodular infiltrations, Respiratory tract infection, Chronic bronchiti... |
ORPHA:79127 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Macroglossia, Umbilical hernia |
OMIM:275100 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Coffin-Siris Syndrome 3 |
|
Central diaphragmatic hernia, High palate, Long philtrum, Wide mouth, Macroglossia, Inguinal hern... |
OMIM:614608 |
Birk-Barel Syndrome |
|
High palate, Feeding difficulties in infancy, Reduced subcutaneous adipose tissue, Bifid uvula, S... |
OMIM:612292 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Vomiting, Dehydration |
ORPHA:79159 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Umbilical hernia |
OMIM:274400 |
Avian Influenza |
|
Pulmonary infiltrates, Increased circulating lactate dehydrogenase concentration, Vomiting, Pneum... |
ORPHA:454836 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia, Recurrent respiratory in... |
ORPHA:77260 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Respiratory insufficiency, Diarrhea, Abdominal pain, Ventilator dependence with inability to wean... |
ORPHA:100924 |
Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Death in infancy, Elevated hepatic transaminase, Respiratory distress, Thin upper li... |
OMIM:615042 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Feeding difficulties in infancy, Respiratory distress, Abdominal distention, Macroglossia, Consti... |
ORPHA:226313 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Vomiting, Secretory diarrhea, Dehydration |
OMIM:616069 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
High palate, Long philtrum, Thin upper lip vermilion, Inguinal hernia, Smooth philtrum, Umbilical... |
OMIM:613544 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... |
OMIM:142623 |
Lethal Osteosclerotic Bone Dysplasia |
|
Gingival fibromatosis, Respiratory distress, Median cleft lip and palate, Dyspnea, Respiratory fa... |
ORPHA:1832 |
Volvulus Of Midgut |
|
Neonatal intestinal obstruction, Volvulus, Abdominal distention, Intestinal malrotation, Constipa... |
OMIM:193250 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... |
ORPHA:264675 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Crackles, Restrictive ventilatory d... |
ORPHA:747 |
Split-Hand/Foot Malformation 3 |
|
High palate, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate |
OMIM:246560 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Feeding difficulties in infancy, Tongue fasciculations, Respiratory di... |
ORPHA:238329 |
Atresia Of Small Intestine |
|
Vomiting, Jejunal atresia, Abdominal distention, Intestinal malrotation, Intestinal hypoplasia, F... |
ORPHA:1201 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Pulmonary hypoplasia, Apnea, Re... |
ORPHA:2257 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Diarrhea, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleu... |
ORPHA:411703 |
Maculopapular Cutaneous Mastocytosis |
|
Darier's sign, Vomiting, Diarrhea, Dermatographic urticaria, Elevated total serum tryptase, Abdom... |
ORPHA:79457 |
Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... |
OMIM:619611 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Nasogastric tube feeding in infancy, High palate, Poor suck, Ventilator dependence with inability... |
ORPHA:254864 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Deep philtrum, Wide mouth, Short philtrum, Inguinal hernia, Narrow mouth, Arthrogryposis multiple... |
OMIM:615834 |
Letterer-Siwe Disease |
|
Pulmonary infiltrates, Jaundice, Stomatitis, Abdominal distention, Dyspnea |
OMIM:246400 |
Hypoglossia With Situs Inversus |
|
High palate, Feeding difficulties in infancy, Hypodontia, Respiratory distress, Malnutrition, Upp... |
OMIM:612776 |
Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
Acute Lung Injury |
|
Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distres... |
ORPHA:178320 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Malabsorption, Abdominal pain, Abdominal distention, Malnutrition, Gastrointestinal dysmotility, ... |
OMIM:613662 |
Aminopterin Syndrome Sine Aminopterin |
|
High palate, Joint contracture of the hand, Oligodontia, Inguinal hernia, Cleft palate, Umbilical... |
OMIM:600325 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Cyanosis, Respiratory distress, Chronic... |
ORPHA:2414 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis, Tented upper lip vermilion, Atelectasis |
ORPHA:896 |
Athyreosis |
|
Feeding difficulties, Constipation, Abdominal distention, Macroglossia |
ORPHA:95713 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor, Dysphagia |
OMIM:150260 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... |
ORPHA:140896 |
Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
Adducted Thumbs Syndrome |
|
High palate, Velopharyngeal insufficiency, Cleft palate, High, narrow palate, Arthrogryposis mult... |
OMIM:201550 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Open mouth, Abnormal oral cavity morphology, Short philtrum, Umbilical hernia |
ORPHA:1516 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dysphagia, Long philtrum, Dehydration |
OMIM:618958 |
Staphylococcal Necrotizing Pneumonia |
|
Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Pleural empyema, Hypoxemia, Respi... |
ORPHA:36238 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Bronchiectasis, Elevated hepatic transaminase, Chronic pulmonary obstruction,... |
OMIM:613490 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Macroglossia, Umbilical hernia |
ORPHA:2349 |
Congenital Tufting Enteropathy |
|
Vomiting, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal... |
ORPHA:92050 |
Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Pulmonary edema, Ce... |
ORPHA:199241 |
Combined Malonic And Methylmalonic Acidemia |
|
Vomiting, Intermittent diarrhea, Nasogastric tube feeding, Dehydration |
ORPHA:289504 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Arthrogryposis multiplex congenita, Natal tooth |
OMIM:217150 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Respiratory distress |
ORPHA:91130 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Wide mouth, Delayed eruption of teeth, Short philtrum, Inguinal hernia, ... |
ORPHA:137834 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... |
ORPHA:2972 |
Anencephaly 2 |
|
Median cleft palate, Anencephaly, Cleft maxillary alveolar ridge, Median cleft lip |
OMIM:619452 |
Van Der Woude Syndrome |
|
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Permanent Congenital Hypothyroidism |
|
Jaundice, Macroglossia, Abdominal distention, Constipation, Feeding difficulties |
ORPHA:226292 |
X-Linked Centronuclear Myopathy |
|
High palate, Poor suck, Recurrent respiratory infections, Feeding difficulties in infancy, Respir... |
ORPHA:596 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Long philtrum, Delayed eruption of teeth, Micrognathia, Dehydration, Carious teeth, Thin vermilio... |
OMIM:214150 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Vomiting, Diarrhea, Long philtrum, Death in infancy, Abdominal distention, Decreased liver functi... |
OMIM:608104 |
Idiopathic Pulmonary Fibrosis |
|
Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchie... |
ORPHA:2032 |
Reticular Dysgenesis |
|
Malabsorption, Diarrhea, Dehydration |
ORPHA:33355 |
Cap Polyposis |
|
Atrophic gastritis, Colorectal polyposis, Diarrhea, Abdominal pain, Abdominal distention, Constip... |
ORPHA:160148 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
High, narrow palate, Umbilical hernia |
ORPHA:2181 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Plantar flexion contracture, Bifid uvula, Contracture of the proximal interphalangeal joint of th... |
ORPHA:2872 |
Adams-Oliver Syndrome 4 |
|
Umbilical hernia |
OMIM:615297 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Long philtrum, Delayed eruption of teeth, Everted lower... |
ORPHA:915 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Restrictive Dermopathy 2 |
|
Cyanosis, Gastroesophageal reflux, Hypoplastic facial bones, Microretrognathia, Feeding difficult... |
OMIM:619793 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Centrilobular ground-glass opacification on pulmonary HRCT, Pulm... |
OMIM:234810 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Vomiting, Diarrhea, Small intestinal dysmotility, Poor appetite, Abdomin... |
ORPHA:298 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... |
ORPHA:95430 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ectopic anus, Spina bifida, Gastroschisis, Anencephaly, Cleft palate |
ORPHA:2476 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Microdontia, Hypoplasia of the maxilla, Tooth agenesis, Cleft palate, Open... |
ORPHA:1248 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence |
OMIM:192445 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Swollen lip, Upper airway obstruction, Erythema, Tongue edema, Angioedema, ... |
ORPHA:100057 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Joint contracture of the hand, Short philtrum, Inguinal hernia, Narrow mouth, Joint contracture o... |
ORPHA:352490 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Dyspnea, Abdominal distention, Ileus |
ORPHA:168811 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intermittent jaundice, Episodic abdominal pain, Facial telangiectasia, Diarrhea, Elevated alkalin... |
ORPHA:100085 |
Hereditary Angioedema Type 1 |
|
Vomiting, Diarrhea, Dermatographic urticaria, Abnormal uvula morphology, Intestinal edema, Abdomi... |
ORPHA:100050 |
Achondrogenesis, Type Ib |
|
Respiratory insufficiency, Stillbirth, Abdominal distention |
OMIM:600972 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Feeding difficulties, Respiratory distress, Wide mouth, Widely spaced teeth |
OMIM:300934 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Recurrent respiratory infections, Death in infancy, Abdominal distention, Protuberant abdomen |
OMIM:277300 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Nausea and vomiting, Dehydration |
ORPHA:28 |
Isolated Cleft Lip |
|
Supernumerary maxillary incisor, Non-midline cleft lip, Bilateral cleft lip, Hypodontia, Velophar... |
ORPHA:199302 |
Lujo Hemorrhagic Fever |
|
Rhinitis, Vomiting, Diarrhea, Fulminant hepatitis, Abdominal cramps, Purpura, Respiratory distres... |
ORPHA:319213 |
Primary Ciliary Dyskinesia |
|
Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Peribronchova... |
ORPHA:244 |
Coffin-Siris Syndrome 11 |
|
High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Bifid uvula, Downturned corners o... |
OMIM:618779 |
Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Dehydration |
ORPHA:99886 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Qazi-Markouizos Syndrome |
|
Chronic constipation, Abdominal distention, Hypoplasia of teeth, Open mouth, High, narrow palate,... |
ORPHA:3010 |
Autosomal Agammaglobulinemia |
|
High palate, Diarrhea, Malabsorption, Sinusitis, Dehydration |
ORPHA:33110 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Episodic respiratory distress, Gastroesophageal reflux, Nasal regurgitation, High palat... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Episodic respiratory distress, Gastroesophageal reflux, Nasal regurgitation, High palat... |
ORPHA:98914 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Primary Peritoneal Carcinoma |
|
Abdominal pain, Constipation, Abdominal distention, Nausea and vomiting |
ORPHA:168829 |
Achondrogenesis |
|
Inguinal hernia, Long philtrum, Umbilical hernia |
ORPHA:932 |
Microvillus Inclusion Disease |
|
Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology, Abdominal distentio... |
ORPHA:2290 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Feeding difficulties in infancy, Ventilator dependence with inability ... |
ORPHA:254875 |
Liver Failure, Infantile, Transient |
|
Elevated circulating alanine aminotransferase concentration, Vomiting, Death in infancy, Feeding ... |
OMIM:613070 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Hypoplasia of the maxilla, Chronic constipation, Mandibular prognathia, High palate |
OMIM:300676 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Gingivitis, Delayed eruption of teeth, Cough, Cleft palate, Recurrent respiratory infections, Gen... |
ORPHA:2314 |
Ovarian Fibroma |
|
Pleural effusion, Odontogenic keratocysts of the jaw, Abdominal pain, Abdominal distention |
ORPHA:314473 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Al Amyloidosis |
|
Abnormal pulmonary interstitial morphology, Macroglossia, Abdominal distention, Bruising suscepti... |
ORPHA:85443 |
Glucose-Galactose Malabsorption |
|
Vomiting, Diarrhea, Abdominal distention, Malnutrition, Hyperactive bowel sounds, Dehydration |
ORPHA:35710 |
Pneumocystosis |
|
Respiratory insufficiency, Increased circulating lactate dehydrogenase concentration, Parenchymal... |
ORPHA:723 |
Hypoadrenocorticism, Familial |
|
Apnea, Feeding difficulties in infancy, Vomiting, Cyanosis |
OMIM:240200 |
Acquired Methemoglobinemia |
|
Cyanosis, Vomiting, Abdominal pain, Hypoxemia, Respiratory distress, Dyspnea |
ORPHA:464453 |
Sepsis In Premature Infants |
|
Cyanosis, Vomiting, Enterocolitis, Diarrhea, Petechiae, Functional abnormality of the gastrointes... |
ORPHA:90051 |
Imagawa-Matsumoto Syndrome |
|
Anteriorly placed anus, Camptodactyly, Umbilical hernia |
OMIM:618786 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
High palate, Umbilical hernia |
ORPHA:1035 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Tracheoesophageal fistula, Upper airway obstruction, Dyspnea, Cough, Strido... |
ORPHA:142 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, High palate, Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vit... |
ORPHA:98913 |
Lujan-Fryns Syndrome |
|
High palate, Micrognathia, Short philtrum, Hypoplasia of the maxilla, Attention deficit hyperacti... |
ORPHA:776 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Abdominal pain, Anorexia, Dehydration, Feeding difficulties |
ORPHA:79312 |
Farber Disease |
|
Respiratory insufficiency, Hepatic failure, Nodular pattern on pulmonary HRCT, Elevated hepatic t... |
ORPHA:333 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... |
OMIM:178500 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Vomiting, Diarrhea, Death in adolescence, Dehydration, Death in childhood |
OMIM:560000 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Respiratory distress |
OMIM:615993 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Difficulty in tongue movements, Respiratory tract infection, Elevated ... |
ORPHA:365 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Vomiting, Diarrhea, Respiratory distress, Feeding difficulties |
OMIM:612075 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Poor suck, Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Folinic Acid-Responsive Seizures |
|
Apnea, Respiratory distress, Abdominal distention |
ORPHA:79097 |
Rin2 Syndrome |
|
Irregular dentition, High palate, Long philtrum, Abnormal lip morphology, Gingival overgrowth, Um... |
ORPHA:217335 |
Solar Urticaria |
|
Dermatographic urticaria, Abnormal lip morphology, Dyspnea, Nausea, Abnormal tongue morphology, A... |
ORPHA:97230 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Inguinal hernia, Umbilical hernia |
ORPHA:2196 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Dysphagia, Elevated hepatic transaminase, Respiratory distress, Respiratory insufficiency due to ... |
OMIM:613561 |
Achondrogenesis Type 1B |
|
Umbilical hernia, Long philtrum, Femoral hernia |
ORPHA:93298 |
Niemann-Pick Disease, Type A |
|
Elevated circulating alanine aminotransferase concentration, Vomiting, Feeding difficulties in in... |
OMIM:257200 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Feeding difficulties in infancy, Vomiting, Diarrhea, Dehydration |
OMIM:264350 |
Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Pulmonary hypoplasia, Hypoxemia, Respiratory distress |
ORPHA:2140 |
Nipah Virus Disease |
|
Nausea and vomiting, Recurrent pharyngitis, Respiratory distress, Anorexia, Cough |
ORPHA:99825 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Protruding tongue, Alveolar ridge overgrowth, Thin vermilion border, Cleft palate, U... |
OMIM:612938 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Diastasis recti, High palate, Short philtrum, Everted lower lip vermilion, Thin upper lip vermili... |
OMIM:616579 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Gingival recession, Intestinal perforation, Alveolar bone loss around teeth, Periodontitis, Gingi... |
OMIM:130080 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Non-midline cleft lip, Lip pit, Cleft palate |
ORPHA:1072 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental malocclusion, Cleft soft palate, Long philtrum, Wide mouth, Oligodontia, Dental crowding, ... |
OMIM:616331 |
Wolman Disease |
|
Hepatic failure, Nausea and vomiting, Steatorrhea, Abdominal distention, Malnutrition, Esophageal... |
ORPHA:75233 |
Achondrogenesis Type 1A |
|
Umbilical hernia, Long philtrum, Femoral hernia |
ORPHA:93299 |
Enterocolitis |
|
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia |
OMIM:226150 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Vomiting, Feeding difficulties in infancy, Pyloric stenosis... |
OMIM:300048 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ... |
OMIM:601216 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth |
OMIM:156510 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... |
ORPHA:60033 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Feeding difficulties, Respiratory distress, Pulmon... |
OMIM:616733 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Midline central nervous system lipomas, Bifid uvula, High palate, Median cleft lip |
OMIM:155145 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... |
OMIM:614370 |
Esophageal Atresia |
|
Cyanosis, Feeding difficulties in infancy, Pulmonary hypoplasia, Dysphagia, Cleft palate, Bronchi... |
ORPHA:1199 |
Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Oxygen desaturation on exertio... |
ORPHA:60025 |
Meckel Syndrome, Type 8 |
|
Cleft palate, Cleft upper lip, Abdominal distention |
OMIM:613885 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Hyperactivity, Mandibular prognathia, Crowded maxillary incisors |
ORPHA:397973 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Nocturnal hypoventilation, Tongue atrophy, Respiratory distress, Dyspn... |
OMIM:211530 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Non-midline cleft lip, Cleft palate, Abnormality of the philtrum |
ORPHA:1770 |
Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Micrognathia, Dental crowding, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Hereditary Methemoglobinemia |
|
Cyanosis, Lip discoloration, Exertional dyspnea |
ORPHA:621 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hepatic failure, Death in infancy, Jaundice, Elevated hepatic transaminase, Respiratory distress,... |
OMIM:617156 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microdontia, Hypodontia, Short philtrum, Everted lower lip vermilion, Inguinal hernia, Umbilical ... |
OMIM:601499 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Feeding difficulties, Vomiting, Diarrhea, Dehydration |
OMIM:177735 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Inguinal hernia, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Auriculocondylar Syndrome |
|
Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Bifid uvula, ... |
ORPHA:137888 |
Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, High palate, Widely spaced teeth, Taurodontia, Inguinal hernia, Umbilical hernia |
OMIM:618205 |
Mesomelia-Synostoses Syndrome |
|
Long philtrum, Abnormal oral frenulum morphology, Narrow mouth, High, narrow palate, Umbilical he... |
ORPHA:2496 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Lysosomal Acid Lipase Deficiency |
|
Low alkaline phosphatase, Hepatic failure, Vomiting, Elevated circulating alanine aminotransferas... |
OMIM:278000 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Gastroesophageal reflux, Hypoventilat... |
ORPHA:258 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the dentition |
ORPHA:2776 |
Smith-Kingsmore Syndrome |
|
Diastasis recti, Long philtrum, Wide mouth, Thin upper lip vermilion, Smooth philtrum, Open mouth... |
OMIM:616638 |
Malaria |
|
Respiratory distress, Nausea and vomiting |
ORPHA:673 |
Pelger-Huet Anomaly |
|
Abnormality of the dentition, Gingival overgrowth, Umbilical hernia, Median cleft palate |
OMIM:169400 |
Fanconi-Bickel Syndrome |
|
Poor appetite, Malabsorption, Reduced subcutaneous adipose tissue, Generalized aminoaciduria, Abd... |
OMIM:227810 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Abdominal pain, Abdominal distention, Malnutrition, Spontaneous esophageal perforation, Gastropar... |
OMIM:277320 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Vomiting, Dehydration |
OMIM:602722 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Gastroesophageal reflux, Vomiting, Poor suck, Death in infancy, Respiratory distress, A... |
OMIM:618426 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis, Achalasia |
ORPHA:2400 |
Thyroid Hypoplasia |
|
Jaundice, Constipation, Abdominal distention, Macroglossia |
ORPHA:95720 |
Chronic Beryllium Disease |
|
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... |
ORPHA:133 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Vomiting, Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Polydipsia |
OMIM:125800 |
Hypercalcemia, Infantile, 1 |
|
Vomiting, Dehydration |
OMIM:143880 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Umbilical hernia |
ORPHA:231144 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Vomiting, Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Polydipsia |
OMIM:304800 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Long philtrum, Cleft soft palate, Camptodactyly, Absent uvula, Triangular mouth, ... |
OMIM:618529 |
Bladder Exstrophy |
|
Abnormality of the anus, Intestinal malrotation, Inguinal hernia, Bladder exstrophy, Omphalocele,... |
ORPHA:93930 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Corticosterone Methyloxidase Type I Deficiency |
|
Feeding difficulties in infancy, Vomiting, Dehydration |
OMIM:203400 |
Shigellosis |
|
Intestinal perforation, Bloody diarrhea, Vomiting, Hepatic failure, Paralytic ileus, Abdominal pa... |
ORPHA:810 |
Isovaleric Acidemia |
|
Vomiting, Dehydration |
OMIM:243500 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
High palate, Short philtrum, Thin upper lip vermilion, Narrow mouth, Increased overbite, Gingival... |
OMIM:616977 |
Thyroid Lymphoma |
|
Respiratory distress, Upper airway obstruction, Dyspnea, Stridor, Dysphagia |
ORPHA:97285 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Cleft palate, Long philtrum |
ORPHA:90653 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alanine aminotransferase concentration, Vomiting, Abdominal pain, Abdominal ... |
ORPHA:90003 |
Luo-Schoch-Yamamoto Syndrome |
|
Wide mouth, Short philtrum, Narrow mouth, Widely-spaced maxillary central incisors, Umbilical her... |
OMIM:619460 |
Mucopolysaccharidosis, Type Ix |
|
Chondrocalcinosis, Bifid uvula, Submucous cleft hard palate |
OMIM:601492 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Pursed lips, Malar flattening, Aglossia |
OMIM:241310 |
Distal Xq28 Microduplication Syndrome |
|
High palate, Short lingual frenulum, Thick lower lip vermilion, Predominantly lower limb lymphede... |
ORPHA:293939 |
Multiple Carboxylase Deficiency |
|
Decreased circulating biotinidase concentration, Respiratory distress, Abnormal circulating enzym... |
ORPHA:148 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Abdominal distention |
ORPHA:369 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Paradoxical respiration, High palate, Respiratory distress, Recurrent acute respiratory tract inf... |
OMIM:620011 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Umbilical hernia |
ORPHA:95717 |
Intestinal Botulism |
|
Diarrhea, Nausea and vomiting, Death in infancy, Dyspnea, Xerostomia, Dysphagia, Respiratory insu... |
ORPHA:178481 |
Zygomycosis |
|
Pneumothorax, Diarrhea, Pleural effusion, Gastritis, Colitis, Hematemesis, Unusual gastrointestin... |
ORPHA:73263 |
Donnai-Barrow Syndrome |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia |
ORPHA:2143 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Congenital dia... |
ORPHA:63862 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Long philtrum, Thin upper lip vermilion, Respiratory distress |
OMIM:614741 |
Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:380 |
Sialidosis Type 2 |
|
Inguinal hernia, Flexion contracture, Umbilical hernia |
ORPHA:87876 |
Cystinosis |
|
Malabsorption, Vomiting, Polydipsia, Dehydration |
ORPHA:213 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Short philtrum, Inguinal hernia, High palate, Umbilical hernia |
OMIM:618354 |
Joint Laxity, Short Stature, And Myopia |
|
Inguinal hernia, Umbilical hernia |
OMIM:617662 |
Encephalopathy, Ethylmalonic |
|
Petechiae, Death in infancy, Acrocyanosis, Chronic diarrhea, Feeding difficulties |
OMIM:602473 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
High palate, Wide mouth, Widely spaced teeth, Camptodactyly, Macroglossia, Downturned corners of ... |
ORPHA:369891 |
Short-Rib Thoracic Dysplasia 12 |
|
Respiratory insufficiency, Lobulated tongue, Natal tooth, Pulmonary hypoplasia, Median cleft lip ... |
OMIM:269860 |
Lead Poisoning |
|
Vomiting, Delayed eruption of teeth, Asthma, Abdominal pain, Abdominal cramps, Abnormal respirato... |
ORPHA:330015 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Everted lower lip vermilion, Tooth agenesis, Shagreen patch,... |
ORPHA:2963 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Vomiting, Dehydration |
OMIM:620126 |
Laryngomalacia |
|
Congenital laryngeal stridor, Respiratory distress |
OMIM:150280 |
Double Outlet Right Ventricle |
|
Cyanosis, Submucous cleft hard palate, Intestinal malrotation, Narrow mouth, Pulmonary artery atr... |
ORPHA:3426 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Gastroesophageal reflux, Long philtrum, Death in infancy, Pyloric stenosis, Pulmonary hypoplasia,... |
OMIM:613177 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Gastroesophageal reflux, Elevated circulating alanine aminotransferase concentration, Poor suck, ... |
OMIM:615595 |
Opitz Gbbb Syndrome |
|
Cleft upper lip, High palate, Anal atresia, Solitary median maxillary central incisor, Thin upper... |
OMIM:300000 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Micrognathia, Jaundice, Oligohydramnios, Dehydration |
OMIM:208085 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Knee flexion contracture, Hip contracture, Long philtrum, Elbow flexion contracture, Camptodactyl... |
OMIM:616266 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Hypoplasia of the maxilla, Mandibular prognathia, Anal atresia |
ORPHA:93950 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, High palate, Death in infancy, Pulmonary lymphangiectasia, Abdominal distention,... |
OMIM:235255 |
Ciliary Dyskinesia, Primary, 1 |
|
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Pneumo... |
OMIM:244400 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Feeding difficulties, Respiratory distress |
ORPHA:26792 |
Propionic Acidemia |
|
Vomiting, Poor appetite, Feeding difficulties in infancy, Constipation, Dehydration |
OMIM:606054 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, High palate, Umbilical hernia |
ORPHA:284180 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Difficulty in tongue movements, Respiratory tract infection, Elevated ... |
ORPHA:308552 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Respiratory distress |
ORPHA:240085 |
Alternating Hemiplegia Of Childhood |
|
Vomiting, Diarrhea, Aspiration, Respiratory distress, Abdominal distention, Flushing, Apnea, Anor... |
ORPHA:2131 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Thin vermilion border, Long philtrum, Umbilical hernia |
ORPHA:171839 |
Mirizzi Syndrome |
|
Vomiting, Abdominal colic, Abdominal pain, Jaundice, Elevated hepatic transaminase, Abdominal dis... |
ORPHA:521219 |
Diaphanospondylodysostosis |
|
Cleft palate, Respiratory distress |
ORPHA:66637 |
Acrocallosal Syndrome |
|
Everted upper lip vermilion, Bifid uvula, Abnormal oral frenulum morphology, Smooth philtrum, Cle... |
OMIM:200990 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Gastroesophageal reflux, Dehydration |
OMIM:251120 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Purpura, Acrocyanosis, Intestinal obstru... |
ORPHA:343 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Gastroesophageal reflux, Circumoral cyanosis |
ORPHA:1949 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Hypoplasia of the maxilla, Thin upper lip vermilion, Widely-spaced incisors, Smooth philtrum |
OMIM:618737 |
Congenital Hypothyroidism |
|
Feeding difficulties in infancy, Macroglossia, Abdominal distention, Tracheoesophageal fistula, S... |
ORPHA:442 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Camptodactyly of finger, Long philtrum, Spina bifida occulta, Inguinal hernia, Conge... |
ORPHA:2311 |
Carnitine Deficiency, Systemic Primary |
|
Vomiting, Diarrhea, Dehydration |
OMIM:212140 |
Idiopathic Hypereosinophilic Syndrome |
|
Feeding difficulties in infancy, Elevated hepatic transaminase, Pleural effusion, Chronic diarrhe... |
ORPHA:3260 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Wide mouth, Microdontia, Abnormal lip morphology, Short philtrum, Respiratory distress, Abnormal ... |
ORPHA:2707 |
Down Syndrome |
|
Narrow palate, Thick lower lip vermilion, Microdontia, Aganglionic megacolon, Macroglossia, Anal ... |
ORPHA:870 |
Orofaciodigital Syndrome Xix |
|
Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongue nodules, Microdontia, Hyp... |
OMIM:620107 |
Diffuse Alveolar Hemorrhage |
|
Pulmonary infiltrates, Hypoxemia, Ground-glass opacification, Restrictive ventilatory defect, Air... |
ORPHA:90060 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, High palate, Exertio... |
ORPHA:98915 |
Cirrhosis, Familial |
|
Pulmonary arterial hypertension, Fulminant hepatitis, Jaundice, Abdominal distention, Esophageal ... |
OMIM:215600 |
Slc35A1-Cdg |
|
Pulmonary hemorrhage, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Pneumonia |
ORPHA:238459 |
Schwartz-Jampel Syndrome, Type 1 |
|
Wrist flexion contracture, High palate, Hip contracture, Deep philtrum, Joint contracture of the ... |
OMIM:255800 |
Hereditary Hyperekplexia |
|
Esophagitis, Umbilical hernia, Hernia, Hiatus hernia |
ORPHA:3197 |
Lymphangioleiomyomatosis |
|
Pulmonary infiltrates, Pneumothorax, Abdominal pain, Emphysema, Restrictive ventilatory defect, D... |
ORPHA:538 |
Gaucher Disease, Type Ii |
|
Gastroesophageal reflux, Recurrent aspiration pneumonia, Death in infancy, Apnea, Cough, Stridor,... |
OMIM:230900 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Gastrostomy tube feeding in infancy, Feeding difficulties in infancy, Micrognat... |
ORPHA:284417 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Abdominal pain, Increased intestinal transit time, Ep... |
OMIM:619377 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Respirato... |
ORPHA:2759 |
Beta-Ketothiolase Deficiency |
|
Oral aversion, Vomiting, Diarrhea, Agitation, Edema, Anorexia, Dehydration |
ORPHA:134 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Wide mouth, Diastema, Thin upper lip vermilion, Downturned corners of mouth, Inguinal hernia, Smo... |
ORPHA:329224 |
Intellectual Disability, Buenos-Aires Type |
|
Dental malocclusion, High palate, Abnormality of dental morphology, Open bite, Umbilical hernia |
ORPHA:3079 |
Frontonasal Dysplasia 1 |
|
Hypoplastic frontal sinuses, Median cleft lip, Hypoplasia of the maxilla, Widely-spaced maxillary... |
OMIM:136760 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Feeding difficulties, Bifid uvula, Submucous cleft hard palate, Hyperactivity |
OMIM:619239 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Long philtrum, Microretrognathia, Edema, Stillbirth, Cleft palat... |
OMIM:200610 |
Gallbladder Neuroendocrine Tumor |
|
Intermittent jaundice, Episodic abdominal pain, Elevated alkaline phosphatase of hepatic origin, ... |
ORPHA:100086 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Inguinal hernia, Cleft palate, Long philtrum, Umbilical hernia |
ORPHA:2505 |
Visceral Myopathy 1 |
|
Vomiting, Diarrhea, Megaduodenum, Aganglionic megacolon, Abdominal pain, Microcolon, Abdominal di... |
OMIM:155310 |
Chiari Malformation Type Ii |
|
Cyanosis, Feeding difficulties, Inspiratory stridor, Dysphagia |
OMIM:207950 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Feeding difficulties in infancy, Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Tularemia |
|
Pulmonary infiltrates, Oral ulcer, Abnormal pulmonary thoracic imaging finding, Respiratory distr... |
ORPHA:3392 |
Pediatric Systemic Lupus Erythematosus |
|
Oral ulcer, Vomiting, Diarrhea, Abdominal pain, Abdominal distention, Pleural effusion, Dyspnea, ... |
ORPHA:93552 |
Sialuria |
|
High palate, Long philtrum, Macroglossia, Thin upper lip vermilion, Attention deficit hyperactivi... |
OMIM:269921 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Accessory oral frenulum, Malar flattening, Feeding diffi... |
ORPHA:79113 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Pulmonary infiltrates, Abnormal pulmonary interstitial morpholog... |
OMIM:612387 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Umbilical hernia, Dental crowding, Persistence of primary teeth, Hiatus hernia |
OMIM:619769 |
Cantu Syndrome |
|
Thick upper lip vermilion, Long philtrum, Thick lower lip vermilion, Gingival overgrowth, Umbilic... |
OMIM:239850 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Umbilical hernia |
OMIM:618272 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Acute Intermittent Porphyria |
|
Respiratory insufficiency, Diarrhea, Respiratory paralysis, Nausea and vomiting, Weakness of musc... |
ORPHA:79276 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Subcutaneous hemorrhage, Volvulus, Abdominal pain, Bruising susceptibility, Gingival bl... |
ORPHA:335 |
20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Narrow mouth, Long philtrum |
ORPHA:261295 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Thin vermilion border, Feeding difficulties, Short philtrum, Respiratory distress |
ORPHA:261304 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration |
OMIM:261680 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Dental malocclusion, Wide mouth, Thick lower lip vermilion, Everted lower lip vermilion, Umbilica... |
ORPHA:85321 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Hypodontia, Submucous cleft hard palate, High, narrow palate, Glossoptosis |
ORPHA:3201 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Vomiting, Diarrhea, Poor appetite, Reye syndrome-like episodes, Respiratory distress, Agitation, ... |
ORPHA:927 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Nausea and vomiting, Dehydration |
ORPHA:27 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Wrist flexion contracture, Flexion contracture, Diastasis recti, Camptodactyly, Macroglossia, Ing... |
ORPHA:254528 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Cyanosis, Pulmonary hemorrhage, Telangiectasia, Hemothorax, Pleu... |
ORPHA:2038 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Gastroesophageal reflux, Polyhydramnios, Nasogastric tube feeding in infancy, Gastrostomy tube fe... |
ORPHA:93316 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Widely spaced teeth, Respiratory distress, Carious teeth, Protuberant abdomen, Thick vermilion bo... |
OMIM:617102 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Restlessness |
OMIM:300266 |
Hyperchlorhidrosis, Isolated |
|
Feeding difficulties, Hypernatremic dehydration |
OMIM:143860 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, Nasogastric tube feeding in infancy, Ectodermal dysplasia, Cleft upper lip, Select... |
OMIM:106260 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, High palate |
ORPHA:85279 |
Hereditary Fructose Intolerance |
|
Reduced circulating aldolase concentration, Vomiting, Diarrhea, Abdominal pain, Jaundice, Abdomin... |
ORPHA:469 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Joint contracture of the hand, Camptodactyly of toe, Umbilical hernia |
OMIM:175700 |
Cholera |
|
Vomiting, Palmoplantar cutis laxa, Diarrhea, Achlorhydria, Abdominal pain, Abdominal cramps, Misc... |
ORPHA:173 |
Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Constipation, Abdominal distention |
ORPHA:168816 |
Angelman Syndrome |
|
Hyperactivity, Mandibular prognathia, Wide mouth, Widely spaced teeth, Feeding difficulties in in... |
OMIM:105830 |
Early-Onset Familial Hypoaldosteronism |
|
Feeding difficulties, Vomiting, Dehydration |
ORPHA:556030 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Deep philtrum, Thin vermilion border, Exaggerated cupid's bow, Umbil... |
OMIM:615879 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the lung, Nausea and vomiting, Abdominal pain, Abdominal distention, Ileus |
ORPHA:83469 |
Distal Monosomy 19P13.3 |
|
Keloids, Vaginal hernia, Short philtrum, Cleft palate, Umbilical hernia |
ORPHA:96129 |
X-Linked Intellectual Disability, Porteous Type |
|
Hypoplasia of the maxilla, Mandibular prognathia, Short philtrum |
ORPHA:93945 |
Acrocephalopolydactyly |
|
Protuberant abdomen |
ORPHA:221054 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormal pleura morphology, Abnormal breath sound, Elevated hepatic transaminase, Crackles, Restr... |
ORPHA:210136 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Diastasis recti, Umbilical hernia, Large placenta |
ORPHA:254534 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Gastroesophageal reflux, Abnormal pleura morphology, Pulmonary infiltr... |
ORPHA:183 |
Tricuspid Atresia |
|
Cyanosis, Pulmonary artery atresia |
ORPHA:1209 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Enamel hypoplasia, Cleft upper lip, Microdontia, Velopharyngeal insufficiency, Bif... |
OMIM:129400 |
Meckel Syndrome 14 |
|
Cyanosis, Retrognathia, Micrognathia, Abdominal distention, Oligohydramnios, Microretrognathia, I... |
OMIM:619879 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Feeding difficulties, Death in childhood, Respiratory distress |
OMIM:615597 |
Platyspondylic Dysplasia, Torrance Type |
|
Cleft palate, Pulmonary hypoplasia, Abdominal distention |
ORPHA:85166 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
High palate, Poor suck, Long philtrum, Chronic constipation, Respiratory distress, Attention defi... |
OMIM:619383 |
Agnathia-Otocephaly Complex |
|
Pulmonary hypoplasia, Respiratory distress, Microglossia, Narrow mouth, Tracheomalacia, Aglossia,... |
OMIM:202650 |
Familial Visceral Myopathy |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Aganglionic megaco... |
ORPHA:2604 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Dental malocclusion, High palate, Deep philtrum, Elevated hepatic transaminase, Respiratory distr... |
ORPHA:329178 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Vomiting, Diarrhea, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy... |
ORPHA:348 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Smooth philtrum, Esophageal atresia |
OMIM:614526 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Vomiting, Jaundice, Respiratory distress, Generalized aminoaciduria, Pulmonary hypoplasia, Nausea... |
OMIM:231680 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Malabsorption, Abdominal distention, Spontaneous esophageal p... |
ORPHA:1876 |
Dend Syndrome |
|
Downturned corners of mouth, Vomiting, Long philtrum, Dehydration |
ORPHA:79134 |
Nager Syndrome |
|
Non-midline cleft lip, Wide mouth, Micrognathia, Hypoplasia of the maxilla, Abnormal palate morph... |
ORPHA:245 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Microdontia, Microretrognathia, Hypoplasia of the maxilla, Microglossia, Narrow mout... |
ORPHA:1307 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Secretory diarrhea, Abdominal distention, Dehydration |
OMIM:214700 |
Isolated Childhood Apraxia Of Speech |
|
Submucous cleft hard palate, High, narrow palate |
ORPHA:209908 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Micrognathia, Thin upper lip vermilion, High palate |
ORPHA:3304 |
Chylomicron Retention Disease |
|
Vomiting, Diarrhea, Fat malabsorption, Elevated hepatic transaminase, Steatorrhea, Abdominal dist... |
ORPHA:71 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t... |
OMIM:617412 |
Lamellar Ichthyosis |
|
Everted lower lip vermilion, Abnormality of the dentition, Dehydration |
ORPHA:313 |
Velocardiofacial Syndrome |
|
Pierre-Robin sequence, Velopharyngeal insufficiency, Submucous cleft hard palate, Inguinal hernia... |
OMIM:192430 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Respiratory distress, Abdominal distention, Pleural effusion, Chylothorax |
OMIM:617300 |
Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Everted upper lip vermilion, Petechiae, Purpura, Respiratory distress, Pulmonary... |
OMIM:608013 |
Toxic Epidermal Necrolysis |
|
Intestinal perforation, Abnormal pleura morphology, Recurrent respiratory infections, Nausea and ... |
ORPHA:537 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia |
ORPHA:1423 |
N-Acetylglutamate Synthase Deficiency |
|
Vomiting, Respiratory distress |
OMIM:237310 |
Mercury Poisoning |
|
Episodic abdominal pain, Interstitial pneumonitis, Respiratory distress, Episodic vomiting, Anore... |
ORPHA:330021 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Gingival hyperkeratosis, Hypodontia, Atrophic scars, Everted lower lip vermilion, Inguinal hernia... |
OMIM:225410 |
3-Methylglutaconic Aciduria, Type Viib |
|
Tube feeding, Polyhydramnios, Micrognathia, Dehydration, Feeding difficulties, Trismus |
OMIM:616271 |
Idiopathic Neonatal Atrial Flutter |
|
Feeding difficulties in infancy, Respiratory distress, Tachypnea |
ORPHA:45452 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Telangiectasia, Elevated hepatic transaminase, Respiratory distress, Smooth philtrum, High, narro... |
OMIM:608799 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Vomiting, Diarrhea, Nausea and vomiting, Abdominal pain, Esophageal varix, Jaund... |
ORPHA:275761 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Hydrolethalus |
|
Retrognathia, Polyhydramnios, Gingival cleft, Micrognathia, Bifid uvula, Submucous cleft hard pal... |
ORPHA:2189 |
Icf Syndrome |
|
Malabsorption, Protruding tongue, Macroglossia, Umbilical hernia |
ORPHA:2268 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Cleft upper lip, High palate, Abnormality of dental morphology, Anal atresia, Tented upper lip ve... |
OMIM:612582 |
Chitayat Syndrome |
|
Abnormal pulmonary interstitial morphology, Respiratory distress, Tracheomalacia, Recurrent respi... |
OMIM:617180 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
High palate, Death in infancy, Irregular respiration, Respiratory distress, Feeding difficulties,... |
OMIM:604377 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory insufficiency, High palate, Poor suck, Respiratory distress, Tongue fasciculations |
ORPHA:1145 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Ventral hernia, High palate, Cellulitis, Atrophic scars, Inguinal hernia, Atypical scarring of sk... |
OMIM:618000 |
Amish Lethal Microcephaly |
|
Micrognathia, Feeding difficulties, Cleft soft palate, Death in infancy |
ORPHA:99742 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Abnormal circulating enzyme concentration or activity, Gastrointestinal dysmotility, Dy... |
ORPHA:391428 |
Amme Complex |
|
Inguinal hernia, Thin upper lip vermilion, Diastasis recti, Umbilical hernia |
OMIM:300194 |
Oculocerebrorenal Syndrome Of Lowe |
|
Respiratory insufficiency, Aminoaciduria, Gingivitis, Delayed eruption of teeth, Feeding difficul... |
ORPHA:534 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Dentinogenesis imperfecta, High palate, Long philtrum, Repeated pneumo... |
ORPHA:536467 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
Nephrotic Syndrome, Type 1 |
|
Neonatal respiratory distress, Gastroesophageal reflux, Pyloric stenosis, Abdominal distention |
OMIM:256300 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory insufficiency, Hepatic failure, Esophageal varix, Elevated hepatic transaminase, Resp... |
ORPHA:367 |
Castleman Disease |
|
Nausea and vomiting, Abdominal pain, Jaundice, Abdominal distention, Dyspnea, Intestinal obstruct... |
ORPHA:160 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory insufficiency, Diarrhea, Pulmonary fibrosis, Respiratory failure, Feeding difficultie... |
OMIM:618278 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
Pancreatoblastoma |
|
Vomiting, Diarrhea, Jaundice, Abdominal pain, Abdominal distention |
ORPHA:677 |
Harlequin Ichthyosis |
|
Eclabion, Dehydration |
ORPHA:457 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Vomiting, Hydrops fetalis, Villous atrophy, Exocrine pancreatic insufficiency, M... |
OMIM:557000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, High palate, Decreased liver function, Exertional dyspnea, Respiratory distress, R... |
OMIM:220110 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, Aspiration pneumonia, High palate, Deep philtrum, Feeding difficulties in infanc... |
ORPHA:314655 |
Distal Monosomy 3P |
|
High palate, Long philtrum, Inguinal hernia, Downturned corners of mouth, Thin vermilion border, ... |
ORPHA:1620 |
Macs Syndrome |
|
Irregular dentition, Recurrent aphthous stomatitis, High palate, Long philtrum, Eclabion, Gingiva... |
OMIM:613075 |
Ovarian Fibrothecoma |
|
Pleural effusion, Abdominal pain, Abdominal distention |
ORPHA:314478 |
Cooper-Jabs Syndrome |
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Camptodactyly of finger, Anteriorly placed anus, Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:1488 |
Craniofacial-Deafness-Hand Syndrome |
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